Spastic Paraplegia Type 11 Latest Advances

Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 11, 2025

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: November 06, 2024

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Journal: Neurogenetics

Published: September 05, 2024

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

Journal: Prenatal diagnosis

Published: June 26, 2024

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Journal: Seizure

Published: June 11, 2024

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Journal: International journal of molecular sciences

Published: February 23, 2024

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

Journal: Neurobiology of disease

Published: January 13, 2024

First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia.

Journal: Molecular biology reports

Published: August 02, 2023

Clinical analysis in patients with SPG11 hereditary spastic paraplegia.

Journal: Frontiers in neurology

Published: April 02, 2023

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Published: February 07, 2023

Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions.

Journal: Biochemical and biophysical research communications

Published: November 28, 2022

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.

Journal: Frontiers in pediatrics

Published: July 18, 2022

Filters

Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene

Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia.

First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia.

Clinical analysis in patients with SPG11 hereditary spastic paraplegia.

Clinical analysis in patients with SPG11 hereditary spastic paraplegia.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions.

Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions.

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.